Pediatric Cardiomyopathy Mutation Analysis

Recruiting

• Conditions: Hypertrophic Cardiomyopathy; Restrictive Cardiomyopathy; Arrhythmogenic Right Ventricular Cardiomyopathy; Cardiomyopathies; Dilated Cardiomyopathy; Left Ventricular Non-compaction Cardiomyopathy

• Registration Number: NCT02432092
• Lead Sponsor: Indiana University

Brief Summary

The goal of this protocol is to obtain information from individuals with cardiomyopathy and from their families in order to elucidate the molecular genetics of this disorder. This will provide the basis for future genetic counseling as well as contribute to elucidating the biology of normal and abnormal cardiac function.

Detailed Description

Cardiomyopathy is a genetically heterogeneous heart muscle disorder that results in ventricular dysfunction. While significant progress has been made in identifying the genetic basis of cardiomyopathy in adults, molecular diagnosis in children has proven more challenging and current algorithms do not incorporate mutation analysis in the clinical protocol. However, recent studies indicate that cardiomyopathy outcomes in children are origin specific, highlighting the importance of precise diagnosis. The goal of this study is to identify the genetic causes of pediatric cardiomyopathy. Rapid, comprehensive and cost-effective detection of genetic causes of cardiomyopathy will aid management and development of novel treatment strategies.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2014-04
• Study First Submitted: 2015-04-28
• Study First Submitted QC: 2015-04-28
• Study First Posted: 2015-05-01
• Status Verified: 2024-02
• Last Update Submitted: 2024-02-05
• Last Update Posted: 2024-02-07
• Primary Completion: 2030-12-31
• Study Completion: 2030-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 300

Inclusion Criteria

• Subjects with cardiomyopathy
• Family members of subjects with cardiomyopathy

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Exclusion Criteria

• Subjects without cardiomyopathy
• Family members of subjects without cardiomyopathy

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Elucidate the molecular genetics of cardiomyopathy	7 years

Trial Locations

Locations (1)

IU School of Medicine; 🇺🇸 Indianapolis, Indiana, United States